This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
Alternative Names
ATP 7A ATP7A ATPase Cu++ transporting alpha polypeptide copper efflux transporter copper pump 1 Cu++-transporting P-type ATPase FLJ17790 MC 1 Menke Menkes disease-associated protein menkes disease-associated protein homolog Menkes protein Menkes syndrome OHS OTTHUMP00000062077 Wilson disease gene